A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208139



Internal ID20775179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212041924..212116361hg38UCSC Ensembl
chr2:212906649..212981086hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3874438
hg1974438
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6336359
Supporting Variants
Samples
Known GenesERBB4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208139
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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